A new genetic lens on Alzheimer’s disease
A recent study published in Alzheimer’s & Dementia leverages neuroimaging genetics and functional genomics to identify a novel contributor to Alzheimer’s disease (AD) pathophysiology. The research mapped established AD-associated genetic variants to specific neuroanatomical traits and predicted neurological features driven by gene expression. The analysis implicates the gene PSMC3 in AD, linking its regulation to vulnerable brain regions. Furthermore, the study identified AD endophenotypes, including a family history of dementia, that are associated with structural changes in the frontal cortex and cerebrospinal fluid volume, offering a mechanistic framework for future functional validation.
Why it might matter to you: This work directly addresses the need for frameworks that connect genetic loci to neurological outcomes in Alzheimer’s disease, a core topic in neurodegeneration research. For professionals focused on neuroimaging, genetics, or dementia, it prioritizes a specific gene, PSMC3, for further mechanistic investigation and highlights neuroimaging traits as potential biomarkers linked to genetic risk. This could influence future research strategies by narrowing the focus for therapeutic target validation and refining the use of neuroimaging endophenotypes in clinical studies.
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